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Genomics & Health Impact Update

Volume 31   Number 4   July 25 - August 1, 2013

Spotlight: The Burden of Obesity: Genes and Environment


a scale

CDC information: Obesity and extreme obesity rates decline among low-income preschool children

CDC is working to implement policy and environmental strategies to make healthy eating and active living accessible and affordable for everyone.

CDC information: What do genes have to do with obesity? Behavior, environment, and genetic factors all have a role in causing people to be overweight and obese

Did you know? 1572 genes have been reported in relation to obesity risk and outcomes, including 138 genomewide association studies. To find out more, visit the HuGE Navigator

Find out about genetic conditions associated with obesity, gene reviews and available genetic tests using the NIH Genetic Testing Registry

Current Scientific Findings on Obesity

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
Masato Asai et al. Science, Jul 19

Rare gene mutations suggest one more path to obesity, by Rebecca Voelker, JAMA News, Jul 18

Overweight? Maybe you really can blame your genes, by Gina Kolata, New York Times, Jul 18

Stop blaming genetics for your weight, by M Hart, Huffington Post, Jul 19

Do these genes make me look fat? A new study zeroes in on a bit of a DNA that leads to ‘obesity-prone behaviors’, by Kent Sepkowitz, Daily Beast, Jul 18

A link between FTO, ghrelin, and impaired brain food-cue responsivity.
Karra E, et al. J Clin Invest. 2013 Jul 15. pii: 44403.

Obesity gene boosts hunger hormone, by Rebecca Bazeley, PHG Foundation, Jul 22



Features of the Week


Aging and Health: Role of Genomics


elderly couple

CDC feature: Aging and health in America, 2013

Genetics and genomics of human aging.
Heather E. Wheeler and Stuart K. Kim Philos Trans R Soc Lond B Biol Sci. 2011 January 12; 366(1561): 43–50.

A genome-wide association study of aging.
Neurobiol Aging. 2011 Nov;32(11):2109.e15-28.

CDC infomation:Why is family history important for your health at any age?

Information on genomics in selected diseases related to aging:

Alzheimer's disease genetics fact sheet, from the National Institute on Aging

Age-related macular degeneration genetics, from the NIH Genetics Home Reference

Heart disease, genomics and family history, CDC information

Breast and ovarian cancer, genomics and family health history,  CDC information

Colorectal cancer, genomics and family history, CDC information

 

Genome Sequencing in Practice: Return of Incidental Findings


whole genome sequencing

Incidental swimming with millstones.
Stephen F. Kingsmore Sci Transl Med 17 Jul 2013: Vol. 5, Issue 194, p. 194ed10

Reflecting on earlier experiences with unsolicited findings: Points to consider for next generation sequencing and informed consent in diagnostics.
Rigter T, et al. Hum Mutat. 2013 Jun 19.

CDC blog post: On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy

Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
Robert C. Green, et al. JAMA. 2013;310(4):365-366.

Mandatory extended searches in all genome sequencing: “incidental findings,” patient autonomy, and shared decision making
Lainie Friedman Ross, et al. JAMA. 2013;310(4):367-368.

Return of secondary genomic findings vs patient autonomy: Implications for medical care
Robert Klitzman, et al. JAMA. 2013;310(4):369-370.

 

The Future of Cancer Screening: Implications of New Genomic Knowledge


silver balls and one red ball

CDC Public Health Grand Rounds: Future of cancer screening: Public health approaches

CDC blog post: How can we use genetic testing in population screening for common diseases? Scientific and implementation challenges

CDC paper: How can polygenic inheritance be used in population screening for common diseases?
Khoury MJ et al. Genetics in Medicine Feb 14, 2013

Public health implications of genomics  and potential for risk stratification and screening
Hilary Burton et al. Nature Genetics 2013;45:349-351

Future cancer screening may be improved by the use of genetic information, PHG Foundation, March 27

CDC information: Breast and ovarian cancer and family health history

CDC information: Genetic testing for breast and ovarian cancer

 

Genomic Medicine, Precision Medicine, Personalized Medicine: What's in a Name?


out of focus background image

Genomic medicine, precision medicine, personalized medicine: What's in a name?
Roden DM & Tyndale RF Clin Pharmacol Ther 2013 Aug;94(2):169-72

The opportunities and challenges of implementing genomics-informed personalized medicine
Chisholm RL Clin Pharmacol Ther 2013 Aug;94(2):181-2

CYP2D6 genotype should not be used to determine endocrine therapy in postmenopausal breast cancer patients
Rae JM Clin Pharmacol Ther 2013 Aug;94(2):183-5

CYP2D6 genotype and tamoxifen cctivity: Understanding interstudy variability in methodological quality
Ratain MJ, et al. Clin Pharmacol Ther 2013 Aug;94(2):185-7

Genomic medicine: too great expectations?
O'Rourke PP Clin Pharmacol Ther 2013 Aug;94(2):188-90

Genomic testing: the clinical laboratory perspective
Faruki H Clin Pharmacol Ther 2013 Aug;94(2):190-2

Educational challenges in implementing genomic medicine
Passamani E Clin Pharmacol Ther 2013 Aug;94(2):192-5

Challenges in the pharmacogenomic annotation of whole genomes
R B Altman, et al. Clinical Pharmacology & Therapeutics (2013); 94 2, 211–213

A health-care system perspective on implementing genomic medicine: Pediatric acute lymphoblastic leukemia as a paradigm
Evans WE, et al. Clin Pharmacol Ther 2013 Aug;94(2):224-9

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Diseases of the Week


Hepatitis


A few people holding up a sign: World Hepatitis Day July 28th

CDC feature: World Hepatitis Day July 28

World Hepatitis Day July 28, 2013: This is hepatitis. Know it. Confront it.

Combination therapy with telaprevir for chronic hepatitis C virus genotype 1 infection in patients with HIV: A randomized trial
Mark S. Sulkowski et al. Ann Internal Medicine July 16, 2013

Did you know: 1282 genes have been reported with hepatitis risk and outcomes, including 44 genomewide association studies. To find out more, visit the HuGE Navigator

Find out which genetic conditions and what genetic tests are available for hepatitis. Visit the NIH Genetic Testing Registry

 

Fragile X Syndrome


father, mother and son

CDC information: July 22 was Fragile X Awareness Day: FXS is the most common known cause of inherited intellectual disability. How much do you know about FXS? Take our quiz to find out.

CDC information: Real stories from people living with Fragile X syndrome

CDC video containing information about the causes of Fragile X Syndrome

Building a national Fragile X registry and database

 

Epilepsy


a crowd of people

Epilepsy Foundation: Approximately 1 in 26 people in the United States will develop epilepsy at some point in their lifetime

CDC information on epilepsy, including the managing epilepsy well (MEW) network 

Did you know: 280 genes have been reported in relation to epilepsy risk and outcomes including 7 genomewide association studies? To find out more, visit the HuGE Navigator

Did you know: 201 genetic conditions have been associated with epilepsy and 119 genetic tests are available. To find out more, visit the NIH Genetic Testing Registry

 

Ovarian Cancer


three women

CDC information: Symptoms of ovarian cancer

NCI information: Some ovarian cancers are caused by inherited gene mutations.

CDC information: The importance of family health history in breast and ovarian cancer

Did you know: 758 genes have been reported in relation to risk and outcomes of ovarian cancer, including 14 genomewide association studies. BRCA1 and BRCA2 are the most common studied genes. To find out more, visit the HuGE Navigator

Did you know: 15 genetic conditions are associated with ovarian cancer and 11 genetic tests are available. To find out more, visit the NIH Genetic Testing Registry

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Select Events


conference room

Family Health History: Clinical decision support for quality improvement, March of Dimes Prematurity Prevention Network, July 30, 2013 1:30 PM - 3:00 PM EDT

American Society for Human Genetics, October 22-26, Boston, MA

 

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Funding Opportunities


piggy bank on top of a few books

NIH commits $24 million annually for Big Data Centers of Excellence- Efforts will harness power of complex datasets to improve health, aid discovery, reduce duplication, NIH, Jul 22

National Institute of Aging: Collaborative research infrastructure to develop research strategies to identify potential therapeutic targets based on genetic factors influencing human life span and health Span (U24)

NIH funds new grants exploring use of genome sequencing in patient care, NIH News, Jul 23

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Reports and Publications


Cancer

car

A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing.
Metcalfe KA, et al. Br J Cancer. 2013 Jun 18

Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population-based study
McCarthy AM, et al. Cancer 2013 Jul

Bridging the clinical gaps: genetic, epigenetic and transcriptomic biomarkers for the early detection of lung cancer in the post-National Lung Screening Trial era
Brothers JF, et al. BMC Med 2013;11:168

Diagnostic utility of p63 expression in the differential diagnosis of pagetoid squamous cell carcinoma in situ and extramammary Paget disease: A histopathologic study of 70 cases
Chang J, et al. Am J Dermatopathol 2013 Jul

Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F associated myeloproliferative neoplasms: A joint European Leukemianet/ MPN&MPNr-EuroNet (COST ActionBM0902) study
Jovanovic JV, et al. Leukemia 2013 Jul

Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer
Macleod R, et al. Eur J Hum Genet 2013 Jul

Feasibility of preemptive biomarker profiling for personalised early clinical drug development at a comprehensive cancer center
Wiesweg M, et al. Eur J Cancer 2013 Jul

Five-year analysis of magnetic resonance imaging as a screening tool in women at hereditary risk of breast cancer
Kam JK, et al. J Med Imaging Radiat Oncol 2013 Aug;57(4):400-6

Patient and provider attitudes toward genomic testing for prostate cancer susceptibility: a mixed method study
Birmingham WC, et al. BMC Health Serv Res 2013 Jul;13(1):279

Patient-reported hereditary breast and ovarian cancer in a primary care practice
Quillin JM, et al. J Community Genet 2013 Jul

Prediction of prostate cancer from prostate biopsy in Chinese men using a genetic score derived from 24 prostate cancer risk-associated SNPs
Jiang H, et al. Prostate 2013 Jul

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care
Miller FA, et al. Eur J Hum Genet 2013 Jul

Genomics in Practice

a doctor pointing to an item

Genomics in clinical practice: lessons from the front lines
Jacob HJ, et al. Sci Transl Med 2013 Jul;5(194):194cm5

Medical management adherence as an outcome of genetic counseling in a pediatric setting
Sarah Rutherford et al. Genet Med, July 18

Impact of genetics on the clinical management of channelopathies
Schwartz P, et al. J Am Coll Cardiol. 2013;62(3):169-180.

Integration of genomics into nursing practice - Kathleen Calzone. June 28. Video from the NHGRI Genomics in Medicine lecture series.

The opportunities and challenges of implementing genomics-informed personalized medicine
Chisholm RL Clin Pharmacol Ther 2013 Aug;94(2):181-2

Genomic Tests

Pharmacogenomics

Prenatal Testing

a pregnant woman

A new era in noninvasive prenatal testing
Morain S, et al. N Engl J Med 2013 Jul

Tools and Databases

numbers on a grid

GEMINI: Integrative exploration of genetic variation and genome annotations.
Umadevi Paila et al. PLoS Computational Biology Jul 19

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CDC-Authored Genomics Publications


ScienceclipsCDC

CDC authors are indicated in bold

Sequence analyses of 2012 West Nile virus isolates from Texas fail to associate viral genetic factors with outbreak magnitude
Duggal NK, D'Anton M, Xiang J, Seiferth R, Day J, Nasci R, Brault AC. Am J Trop Med Hyg. 2013 Jul 1.

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics
Kalman LV, Lubin IM, Barker S, du Sart D, Elles R, Grody WW, Pazzagli M, Richards S, Schrijver I, Zehnbauer B. Arch Pathol Lab Med. 2013 Jul;137(7):983-988.

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing
Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, Toji L. J Mol Diagn. 2013 Jul;15(4):518-25.

A reassessment of the evolutionary timescale of bat rabies viruses based upon glycoprotein gene sequences
Kuzmina NA, Kuzmin IV, Ellison JA, Taylor ST, Bergman DL, Dew B, Rupprecht CE. Virus Genes. 2013 Jul 10.

Genetic divergence among members of the Kokobera group of flaviviruses supports their separation into distinct species
May FJ, Clark DC, Pham K, Diviney SM, Williams DT, Field EJ, Kuno G, Chang GJ, Cheah WY, Setoh YX, Prow NA, Hobson-Peters J, Hall RA. J Gen Virol. 2013 Jul;94(Pt 7):1462-7.

One year survey of human rotavirus strains suggests the emergence of genotype g12 in Cameroon
Ndze VN, Papp H, Achidi EA, Gonsu KH, Laszlo B, Farkas S, Kisfali P, Melegh B, Esona MD, Bowen MD, Banyai K, Gentsch JR, Odama AM. J Med Virol. 2013 Aug;85(8):1485-90.

The microRNA-200 family targets multiple non-small cell lung cancer prognostic markers in H1299 cells and BEAS-2B cells
Pacurari M, Addison JB, Bondalapati N, Wan YW, Luo D, Qian Y, Castranova V, Ivanov AV, Guo NL. Int J Oncol. 2013 Aug;43(2):548-60.

Biological networks for predicting chemical hepatocarcinogenicity using gene expression data from treated mice and relevance across human and rat species
Thomas R, Thomas RS, Auerbach SS, Portier CJ. PLoS ONE. 2013 ;8(5):e63308.

Biobanking, consent, and certificates of confidentiality: does the ANPRM muddy the water?
Williams BA, Wolf LE. J Law Med Ethics. 2013 Jun;41(2):440-453.

View previous CDC-authored publications

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About the Genomics & Health Impact Update

The Update includes  genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  To receive the update electronically every week sign-up here.

 

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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC.  Note that some links may become invalid over time.

 



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